DisGeNET - a database of gene-disease associations

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1, C3888239

Source: CURATED ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1554818362

RET

0.800

GeneticVariation

UNIPROT

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

22174939

2011

dbSNP:

rs537874538

RET

0.800

GeneticVariation

UNIPROT

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

22174939

2011

dbSNP:

rs76087194

RET

0.800

GeneticVariation

UNIPROT

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

22174939

2011

dbSNP:

rs76262710

RET

0.800

GeneticVariation

UNIPROT

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

22174939

2011

dbSNP:

rs76534745

RET

0.800

GeneticVariation

UNIPROT

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

22174939

2011

dbSNP:

rs77596424

RET

0.800

GeneticVariation

UNIPROT

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

22174939

2011

dbSNP:

rs78098482

RET

0.800

GeneticVariation

UNIPROT

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

22174939

2011

dbSNP:

rs1554818362

RET

0.800

GeneticVariation

UNIPROT

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

10618407

2000

dbSNP:

rs537874538

RET

0.800

GeneticVariation

UNIPROT

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

10618407

2000

dbSNP:

rs76087194

RET

0.800

GeneticVariation

UNIPROT

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

10618407

2000

dbSNP:

rs76262710

RET

0.800

GeneticVariation

UNIPROT

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

10618407

2000

dbSNP:

rs76534745

RET

0.800

GeneticVariation

UNIPROT

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

10618407

2000

dbSNP:

rs77596424

RET

0.800

GeneticVariation

UNIPROT

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

10618407

2000

dbSNP:

rs78098482

RET

0.800

GeneticVariation

UNIPROT

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

10618407

2000

dbSNP:

rs1554818362

RET

0.800

GeneticVariation

UNIPROT

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.

10090908

1999

dbSNP:

rs1554818362

RET

0.800

GeneticVariation

UNIPROT

Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site.

10484767

1999

dbSNP:

rs537874538

RET

0.800

GeneticVariation

UNIPROT

Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site.

10484767

1999

dbSNP:

rs537874538

RET

0.800

GeneticVariation

UNIPROT

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.

10090908

1999

dbSNP:

rs76087194

RET

0.800

GeneticVariation

UNIPROT

Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site.

10484767

1999

dbSNP:

rs76087194

RET

0.800

GeneticVariation

UNIPROT

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.

10090908

1999

dbSNP:

rs76262710

RET

0.800

GeneticVariation

UNIPROT

Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site.

10484767

1999

dbSNP:

rs76262710

RET

0.800

GeneticVariation

UNIPROT

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.

10090908

1999

dbSNP:

rs76534745

RET

0.800

GeneticVariation

UNIPROT

Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site.

10484767

1999

dbSNP:

rs76534745

RET

0.800

GeneticVariation

UNIPROT

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.

10090908

1999

dbSNP: